Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
Cystinosis, Myopathy
About this trial
This is an interventional treatment trial for Cystinosis focused on measuring Cystinosis, Myopathy, Recombiant Growth Hormone
Eligibility Criteria
- INCLUSION CRITERIA:
- Age 18-70 years, either gender
- Diagnosis of nephropathic cystinosis confirmed by leucocyte cystine levels
- Evidence of muscle involvement such as decrease of muscle mass, weakness or EMG findings and/or documented abnormal swallowing study and PFT results
- Ability to travel to the NIH Clinical Research Center for admissions
- Ability to consent
- Compliant with cysteamine treatment regimen
- Availability of local medical follow-up
ENCLUSION CRITERIA:
- Not able to self administer daily subcutaneous injections, or not able to identify a family member/caregiver to administer them to you.
- Age <18
- Psychiatric illness or neurological disease that interferes with compliance or communication with health care personnel
- Current malignancy or history of malignancy
- Uncontrolled hypertension (blood pressure >180 systolic or >95 diastolic)
- Poor controlled hyperglycemia (fasting blood glucose level >160)
- Serum creatinine level >1.8 mg/dL
- Pregnancy
Children are excluded because the critical issues of dosage and safety can be answered in adults, and because children with cystinosis are rarely affected with the symptoms of myopathy. Patients with chronic renal failure, treated with hemodialysis will not be excluded from the study, as GH is not contraindicated for such patients. Patients received renal transplants are not excluded from the study as GH treatment are not a contraindication for such patients. Enrolled patients must be able to travel to the NIH in case adverse events occur locally after discharge from the NIH Clinical Research Center. Other medical exclusions will help to avoid the spurious assignation of side effects to rhGH.